Search

We report a case of thoracic air-leak syndrome, an extremely rare complication developed after an episode of organizing pneumonia due to graft-vs-host disease in a 19-year-old male. This unusual non-infectious pulmonary complication occurred 527 days after allogeneic HSCT and led to the patient's death within 1 month due to cardio-respiratory failure. Herein, we highlight chest-imaging aspects which are typical. Early detection by high-resolution chest CT could improve patient management.

Background: Basal cell carcinoma (BCC), the most prevalent form of cancer worldwide, is a malignant skin neoplasm. It is locally invasive, with an exceptional incidence of reported metastasis. It can also be part of the Gorlin-Goltz syndrome, an autosomal dominant genetic disorder with high penetrance and variable expressivity, which is principally characterized by cutaneous BCC, odontogenic keratocysts, palmar and/or plantar pits, and falx cerebri calcification. Observation: We report the exceptional clinical observation of a 54-year-old man presenting bone metastasis from BCC in Gorlin-Goltz syndrome. Conclusion: Less than 300 cases of metastatic BCC have been reported in the literature. The present case is the second associated with Gorlin-Goltz syndrome.

CCHS or Ondine9s curse is a rare autosomal dominant disease, characterized by disorders of the autonomic nervous system, with abnormal ventilatory responses to hypercapnia and hypoxemia. PHOX2B has been identified as the major disease causing gene for CCHS. It results from polyalanine repeat expansion mutations. It typically occurs in the newborn period, but some cases have been described on adults (late onset CCHS) and reflects the variable penetrance of PHOX2B mutations. A 48 year-old woman presented after an ovarian cyst surgery a severe hypoventilation requiring intubation. Arterial blood gas revealed a PO2 of 50 mmHg, a PCO2 of 80 mmHg and a pH of 7,22. Past medical history indicated poor apparent symptoms for few years. These included apneas, fitfully sleep and awakening with headaches. Physical examination and pulmonary function tests, lung tomography, magnetic resonance imaging of the brainstem were normal. Polysomnography revealed many central and obstructive apneas and hypopneas (apnea-hypopnea index of 22/h) with severe hypoxemia (SpO2 average 75%) and hypercapnia (transcutaneous CO2 85mmHg). Non invasive ventilation was initially poorly tolerated. Finally, she responded to an adaptative servo ventilation. Hypoxia and hypercapnia tests showed no adaptation of the ventilatory response. Genetic analysis showed a heterozygous five alanine expansion mutation of the 20-residue polyalanine tract in exon 3 of the PHOX2B gene. The diagnosis of late onset CCHS should be considered in patients with unexplained hypoventilation after anesthesia, and physiologic evaluations documenting abnormal ventilatory response should be completed. The presence of a PHOX2B mutation confirms the diagnosis.